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Select item 95095901.

Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report

Lin Zhou, Zhike Xu, Qianying Wu, Xin Wei

BMC Ophthalmol. 2022; 22: 385. Published online 2022 Sep 24. doi: 10.1186/s12886-022-02573-x

PMCID:: PMC9509590

Abstract Article PDF–1.5M

Select item 94153562.

Up-regulated IL-17 and Tnf signaling in bone marrow cells of young male osteogenesis imperfecta mice

Chenyi Shao, Yi Liu, Jiaci Li, Ziyun Liu, Yuxia Zhao, Yaqing Jing, Zhe Lv, Ting Fu, Zihan Wang, Guang Li

PeerJ. 2022; 10: e13963. Published online 2022 Aug 23. doi: 10.7717/peerj.13963

PMCID:: PMC9415356

Abstract Article PDF–3.7M

Select item 94260253.

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Mehran Kausar, Noor Ul Ain, Farzana Hayat, Hunain Fatima, Saad Azim, Hazrat Ullah, Murva Mushtaq, Sumbal Khalid, Shahid Hussain, Sadaf Naz, Jamal Janjua, Saad Bin Amjad, Ruqia Mehmood Baig, Outi Makitie, Raheel Qamar, Shiro Ikegawa, Nishimura Gen, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi

BMC Musculoskelet Disord. 2022; 23: 818. Published online 2022 Aug 30. doi: 10.1186/s12891-022-05719-6

PMCID:: PMC9426025

Abstract Article PDF–1.1M

Select item 94456994.

Unique skeletal manifestations in patients with Primrose syndrome

Veronica Arora, Eyby Leon, Jullianne Diaz, Hanne Buciek Hove, Daniel Rocha Carvalho, Kenji Kurosawa, Natao Nishimura, Gen Nishimura, Renu Saxena, Carlos Ferreira, Ratna Dua Puri, Ishwar C Verma

Eur J Med Genet. Author manuscript; available in PMC 2022 Sep 6.

Published in final edited form as: Eur J Med Genet. 2020 Aug; 63(8): 103967. Published online 2020 May 27. doi: 10.1016/j.ejmg.2020.103967

PMCID:: PMC9445699

Abstract Article PDF–742K

Select item 94516695.

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

Joshua K. Meisner, Donna M. Martin

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2022 Sep 7.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Mar; 184(1): 81–89. Published online 2019 Dec 13. doi: 10.1002/ajmg.c.31761

PMCID:: PMC9451669

Abstract Article PDF–479K

Select item 94612196.

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

Gregorio Serra, Clara Giambrone, Vincenzo Antona, Francesca Cardella, Maurizio Carta, Marcello Cimador, Giovanni Corsello, Mario Giuffrè, Vincenzo Insinga, Maria Cristina Maggio, Marco Pensabene, Ingrid Anne Mandy Schierz, Ettore Piro

Ital J Pediatr. 2022; 48: 170. Published online 2022 Sep 8. doi: 10.1186/s13052-022-01365-9

PMCID:: PMC9461219

Abstract Article PDF–910K

Select item 94642047.

Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration

Asha Kumari, Raul Ayala-Ramirez, Juan Carlos Zenteno, Kristyn Huffman, Roman Sasik, Radha Ayyagari, Shyamanga Borooah

Sci Rep. 2022; 12: 15273. Published online 2022 Sep 10. doi: 10.1038/s41598-022-19351-w

PMCID:: PMC9464204

Abstract Article PDF–9.4M

Select item 94683378.

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway

Weichao Zhang, Xi Yang, Yingxiang Li, Linchen Yu, Bokai Zhang, Jianchao Zhang, Woo Jung Cho, Varsha Venkatarangan, Liang Chen, Bala Bharathi Burugula, Sarah Bui, Yanzhuang Wang, Cunming Duan, Jacob O. Kitzman, Ming Li

Nat Commun. 2022; 13: 5351. Published online 2022 Sep 12. doi: 10.1038/s41467-022-33025-1

PMCID:: PMC9468337

Abstract Article PDF–5.1M

Select item 94696729.

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Halil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, Kısmet Çıkı, Ayşe Burcu Kahraman, İzzet Erdal, Turgay Coşkun, Ali Dursun, Hatice Serap Sivri, Ayşegül Tokatlı

Balkan Med J. 2022 Sep; 39(5): 345–350. Published online 2022 Sep 9. doi: 10.4274/balkanmedj.galenos.2022.2022-3-75

PMCID:: PMC9469672

Abstract Article PDF–478K

Select item 947738910.

Heterozygous LRP1 deficiency causes developmental dysplasia of the hip by impairing triradiate chondrocytes differentiation due to inhibition of autophagy

Wenjin Yan, Liming Zheng, Xingquan Xu, Zheng Hao, Yibo Zhang, Jun Lu, Ziying Sun, Jin Dai, Dongquan Shi, Baosheng Guo, Qing Jiang

Proc Natl Acad Sci U S A. 2022 Sep 13; 119(37): e2203557119. Published online 2022 Sep 6. doi: 10.1073/pnas.2203557119

PMCID:: PMC9477389

Abstract Article PDF–2.9M

Select item 948257411.

SOX9 in organogenesis: shared and unique transcriptional functions

Zhenhua Ming, Brittany Vining, Stefan Bagheri-Fam, Vincent Harley

Cell Mol Life Sci. 2022; 79(10): 522. Published online 2022 Sep 17. doi: 10.1007/s00018-022-04543-4

PMCID:: PMC9482574

Abstract Article PDF–1.2M

Select item 948621512.

Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)

Shreya Das, Charu Sharma, Meenakshi Gothwal, Nayan Tada

BMJ Case Rep. 2022; 15(9): e251118. Published online 2022 Sep 19. doi: 10.1136/bcr-2022-251118

PMCID:: PMC9486215

Abstract Article PDF–1.2M

Select item 949661913.

MiR-29a Family as a Key Regulator of Skeletal Muscle Dysplasia in a Porcine Model of Intrauterine Growth Retardation

Yan Zhu, Jianfeng Ma, Hongmei Pan, Mailin Gan, Linyuan Shen

Biomolecules. 2022 Sep; 12(9): 1193. Published online 2022 Aug 28. doi: 10.3390/biom12091193

PMCID:: PMC9496619

Abstract Article PDF–4.9M

Select item 949865914.

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4

Tatiana Markova, Vladimir Kenis, Evgenii Melchenko, Aynur Alieva, Tatiana Nagornova, Anna Orlova, Natalya Ogorodova, Olga Shchagina, Alexander Polyakov, Elena Dadali, Sergey Kutsev

Genes (Basel) 2022 Sep; 13(9): 1512. Published online 2022 Aug 24. doi: 10.3390/genes13091512

PMCID:: PMC9498659

Abstract Article PDF–5.3M

Select item 949873015.

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta

Kai Yang, Yan Liu, Jue Wu, Jing Zhang, Hua-ying Hu, You-sheng Yan, Wen-qi Chen, Shu-fa Yang, Li-juan Sun, Yong-qing Sun, Qing-qing Wu, Cheng-hong Yin

Genes (Basel) 2022 Sep; 13(9): 1578. Published online 2022 Sep 2. doi: 10.3390/genes13091578

PMCID:: PMC9498730

Abstract Article PDF–1.9M

Select item 950011816.

Shwachman Diamond Syndrome: Narrow Genotypic Spectrum and Variable Clinical Features

Ashley S. Thompson, Neelam Giri, D. Matthew Gianferante, Kristine Jones, Sharon A. Savage, Blanche P. Alter, Lisa J. McReynolds

Pediatr Res. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Pediatr Res. 2022 Dec; 92(6): 1671–1680. Published online 2022 Mar 23. doi: 10.1038/s41390-022-02009-8

PMCID:: PMC9500118

Abstract Article PDF–1.1M

Select item 940899617.

Meier–Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test

Maria S. Nazarenko, Iuliia V. Viakhireva, Mikhail Y. Skoblov, Elena V. Soloveva, Aleksei A. Sleptcov, Ludmila P. Nazarenko

Int J Mol Sci. 2022 Aug; 23(16): 9234. Published online 2022 Aug 17. doi: 10.3390/ijms23169234

PMCID:: PMC9408996

Abstract Article PDF–25M

Select item 950988818.

Fate mapping melanoma persister cells through regression and into recurrent disease in adult zebrafish

Jana Travnickova, Sarah Muise, Sonia Wojciechowska, Alessandro Brombin, Zhiqiang Zeng, Adelaide I. J. Young, Cameron Wyatt, E. Elizabeth Patton

Dis Model Mech. 2022 Sep 1; 15(9): dmm049566. Published online 2022 Sep 16. doi: 10.1242/dmm.049566

PMCID:: PMC9509888

Abstract Article

Select item 951475619.

Transcriptional and Immune Landscape of Cardiac Sarcoidosis

Jing Liu, Pan Ma, Lulu Lai, Ana Villanueva, Andrew Koenig, Gregory R. Bean, Dawn E. Bowles, Carolyn Glass, Michael Watson, Kory J. Lavine, Chieh-Yu Lin

Circ Res. 2022 Sep 30; 131(8): 654–669. Published online 2022 Sep 16. doi: 10.1161/CIRCRESAHA.121.320449

PMCID:: PMC9514756

Abstract Article PDF–14M

Select item 952173120.

Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases

Anthony Tucker-Bartley, Jordan Lemme, Andrea Gomez-Morad, Nehal Shah, Miranda Veliu, Frank Birklein, Claudia Storz, Seward Rutkove, David Kronn, Alison M. Boyce, Eduard Kraft, Jaymin Upadhyay

Neurosci Biobehav Rev. Author manuscript; available in PMC 2022 Sep 29.

Published in final edited form as: Neurosci Biobehav Rev. 2021 May; 124: 267–290. Published online 2021 Feb 10. doi: 10.1016/j.neubiorev.2021.02.009